Variant report

Variant	rs531280678
Chromosome Location	chr3:134202032-134202033
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr3:134202012-134202338	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr3:134201835-134202303	MCF10A-Er-Src	breast:	n/a	n/a
3	JUN	chr3:134201951-134202616	HUVEC	blood vessel:	n/a	chr3:134202545-134202553 chr3:134202196-134202207
4	POLR2A	chr3:134201396-134207240	IMR90	lung:	n/a	n/a
5	POLR2A	chr3:134201717-134203000	HUVEC	blood vessel:	n/a	n/a
6	FOSL2	chr3:134201804-134202722	SK-N-SH	brain:	n/a	chr3:134202545-134202553 chr3:134202196-134202207
7	POLR2A	chr3:134201925-134202902	HUVEC	blood vessel:	n/a	n/a
8	POLR2A	chr3:134201839-134203025	HUVEC	blood vessel:	n/a	n/a
9	POLR2A	chr3:134201301-134203057	K562	blood:	n/a	n/a
10	POLR2A	chr3:134201670-134202960	HUVEC	blood vessel:	n/a	n/a
11	FOS	chr3:134201990-134202625	MCF10A-Er-Src	breast:	n/a	chr3:134202545-134202553 chr3:134202196-134202207
12	POLR2A	chr3:134202025-134202674	ProgFib	skin:	n/a	n/a
13	STAT3	chr3:134201947-134202518	MCF10A-Er-Src	breast:	n/a	chr3:134202151-134202162
14	STAT3	chr3:134201951-134202422	MCF10A-Er-Src	breast:	n/a	chr3:134202151-134202162
15	POLR2A	chr3:134201862-134202740	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr3:134201864-134202720	MCF10A-Er-Src	breast:	n/a	chr3:134202545-134202553 chr3:134202196-134202207
17	FOS	chr3:134202013-134202699	MCF10A-Er-Src	breast:	n/a	chr3:134202545-134202553 chr3:134202196-134202207
18	EP300	chr3:134201873-134202581	SK-N-SH	brain:	n/a	n/a
19	FOS	chr3:134201931-134202711	MCF10A-Er-Src	breast:	n/a	chr3:134202545-134202553 chr3:134202196-134202207
20	POLR2A	chr3:134202010-134202503	HUVEC	blood vessel:	n/a	n/a
21	POLR2A	chr3:134201878-134202510	SK-N-SH	brain:	n/a	n/a
22	FOS	chr3:134201708-134202780	HUVEC	blood vessel:	n/a	chr3:134202545-134202553 chr3:134202196-134202207
23	GATA2	chr3:134201710-134202504	HUVEC	blood vessel:	n/a	chr3:134202097-134202107
24	STAT3	chr3:134201931-134202455	MCF10A-Er-Src	breast:	n/a	chr3:134202151-134202162

No.	Distal block	Cell Line	Cell type
1	chr3:134027625..134034860-chr3:134199305..134206618,11	MCF-7	breast:
2	chr3:134081380..134086335-chr3:134201546..134208103,7	MCF-7	breast:
3	chr3:134091805..134100491-chr3:134198620..134206897,15	MCF-7	breast:
4	chr3:134072948..134076764-chr3:134201781..134206077,4	MCF-7	breast:

Variant related genes	Relation type
CEP63	TF binding region
ENSG00000114019	Chromatin interaction
ENSG00000214289	Chromatin interaction
ENSG00000240006	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877510	chr3:134126150-134400448	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv877511	chr3:134174071-134358947	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv877512	chr3:134174071-134372486	Enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv877513	chr3:134174071-134379752	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv877514	chr3:134191938-134372486	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	nsv829730	chr3:134199097-134359544	Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
7	esv33705	chr3:134201034-134210747	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:134183800-134203600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr3:134184000-134203000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr3:134190800-134203600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr3:134193000-134202800	Weak transcription	Stomach Mucosa	stomach
5	chr3:134193000-134203400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr3:134193600-134202200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr3:134193800-134202400	Strong transcription	Fetal Intestine Large	intestine
8	chr3:134194400-134202200	Strong transcription	Primary T cells from cord blood	blood
9	chr3:134194600-134202200	Strong transcription	Fetal Thymus	thymus
10	chr3:134194600-134202800	Strong transcription	Fetal Muscle Trunk	muscle
11	chr3:134195000-134202200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr3:134195000-134202200	Strong transcription	Sigmoid Colon	Sigmoid Colon
13	chr3:134195000-134202400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr3:134195000-134202400	Strong transcription	Rectal Mucosa Donor 29	rectum
15	chr3:134195200-134202600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr3:134195600-134202200	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chr3:134196600-134202200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
18	chr3:134196600-134202400	Strong transcription	K562	blood
19	chr3:134197800-134202200	Weak transcription	Hela-S3	cervix
20	chr3:134198600-134202200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr3:134199000-134202400	Strong transcription	Brain Germinal Matrix	brain
22	chr3:134199200-134202200	Strong transcription	Brain Inferior Temporal Lobe	brain
23	chr3:134199400-134202200	Strong transcription	Rectal Smooth Muscle	rectum
24	chr3:134199600-134202200	Strong transcription	H9 Cell Line	embryonic stem cell
25	chr3:134199800-134202200	Strong transcription	Fetal Brain Male	brain
26	chr3:134200000-134202400	Weak transcription	Fetal Intestine Small	intestine
27	chr3:134200000-134203400	Weak transcription	Right Atrium	heart
28	chr3:134200000-134203800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr3:134200200-134203600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr3:134200400-134202200	Weak transcription	Spleen	Spleen
31	chr3:134200400-134202600	Weak transcription	Lung	lung
32	chr3:134200400-134202600	Weak transcription	Small Intestine	intestine
33	chr3:134200400-134203200	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr3:134200400-134203400	Weak transcription	Esophagus	oesophagus
35	chr3:134200600-134202200	Weak transcription	Brain Substantia Nigra	brain
36	chr3:134200600-134202600	Weak transcription	HepG2	liver
37	chr3:134200600-134202800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr3:134200600-134203400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr3:134201200-134202200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr3:134201200-134202200	Enhancers	Psoas Muscle	Psoas
41	chr3:134201200-134202800	Genic enhancers	Fetal Lung	lung
42	chr3:134201200-134203600	Enhancers	Aorta	Aorta
43	chr3:134201400-134202200	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr3:134201400-134203000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr3:134201400-134203000	Flanking Active TSS	NH-A	brain
46	chr3:134201400-134203200	Enhancers	NHLF	lung
47	chr3:134201400-134203400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr3:134201400-134203400	Weak transcription	Colonic Mucosa	Colon
49	chr3:134201400-134204400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr3:134201600-134202200	Genic enhancers	Primary B cells from cord blood	blood

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